Incidental Mutation 'IGL02819:Syt17'
| ID |
360938 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Syt17
|
| Ensembl Gene |
ENSMUSG00000058420 |
| Gene Name |
synaptotagmin XVII |
| Synonyms |
Bk |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL02819
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
117979940-118047445 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
G to A
at 118009143 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000145087
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000081574]
[ENSMUST00000203465]
[ENSMUST00000203485]
[ENSMUST00000203796]
|
| AlphaFold |
Q920M7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000081574
|
| SMART Domains |
Protein: ENSMUSP00000080284
Gene: ENSMUSG00000058420
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
90 |
102 |
N/A |
INTRINSIC |
|
low complexity region
|
103 |
118 |
N/A |
INTRINSIC |
|
low complexity region
|
159 |
172 |
N/A |
INTRINSIC |
|
C2
|
196 |
305 |
7.92e-19 |
SMART |
|
low complexity region
|
315 |
328 |
N/A |
INTRINSIC |
|
C2
|
333 |
448 |
2.8e-19 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000203465
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000203485
|
| SMART Domains |
Protein: ENSMUSP00000144987
Gene: ENSMUSG00000058420
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
94 |
106 |
N/A |
INTRINSIC |
|
low complexity region
|
107 |
122 |
N/A |
INTRINSIC |
|
low complexity region
|
163 |
176 |
N/A |
INTRINSIC |
|
C2
|
200 |
309 |
5.2e-21 |
SMART |
|
low complexity region
|
319 |
332 |
N/A |
INTRINSIC |
|
C2
|
337 |
419 |
3.1e-3 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000203796
|
| SMART Domains |
Protein: ENSMUSP00000145087
Gene: ENSMUSG00000058420
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
33 |
45 |
N/A |
INTRINSIC |
|
low complexity region
|
46 |
61 |
N/A |
INTRINSIC |
|
low complexity region
|
102 |
115 |
N/A |
INTRINSIC |
|
C2
|
139 |
248 |
5.2e-21 |
SMART |
|
low complexity region
|
258 |
271 |
N/A |
INTRINSIC |
|
C2
|
276 |
391 |
1.9e-21 |
SMART |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4833439L19Rik |
C |
T |
13: 54,712,033 (GRCm39) |
|
probably benign |
Het |
| Abcb8 |
T |
A |
5: 24,611,422 (GRCm39) |
N470K |
probably benign |
Het |
| Adamtsl3 |
A |
T |
7: 82,223,329 (GRCm39) |
N1037Y |
probably damaging |
Het |
| Adcy3 |
T |
C |
12: 4,256,986 (GRCm39) |
|
probably benign |
Het |
| Ankrd35 |
A |
G |
3: 96,597,524 (GRCm39) |
D983G |
possibly damaging |
Het |
| Asf1a |
A |
G |
10: 53,483,920 (GRCm39) |
T118A |
probably benign |
Het |
| Atp2a3 |
T |
C |
11: 72,868,033 (GRCm39) |
Y389H |
probably damaging |
Het |
| Atp5f1b |
T |
C |
10: 127,919,821 (GRCm39) |
I63T |
probably damaging |
Het |
| C2cd5 |
A |
G |
6: 143,028,946 (GRCm39) |
Y98H |
probably benign |
Het |
| Caprin2 |
A |
G |
6: 148,749,756 (GRCm39) |
V518A |
probably damaging |
Het |
| Ces1d |
C |
A |
8: 93,896,346 (GRCm39) |
|
probably null |
Het |
| Clcn2 |
C |
A |
16: 20,528,006 (GRCm39) |
E487* |
probably null |
Het |
| Cog6 |
T |
A |
3: 52,916,966 (GRCm39) |
K184M |
probably damaging |
Het |
| Cpn1 |
A |
G |
19: 43,956,907 (GRCm39) |
Y286H |
probably damaging |
Het |
| Cpne9 |
A |
T |
6: 113,277,624 (GRCm39) |
S448C |
probably damaging |
Het |
| Csnk2a1 |
G |
T |
2: 152,116,005 (GRCm39) |
|
probably benign |
Het |
| Cys1 |
T |
C |
12: 24,717,169 (GRCm39) |
E132G |
possibly damaging |
Het |
| Depdc7 |
T |
C |
2: 104,555,071 (GRCm39) |
M280V |
probably benign |
Het |
| Fhad1 |
C |
T |
4: 141,646,069 (GRCm39) |
D298N |
probably benign |
Het |
| Golga1 |
T |
A |
2: 38,929,090 (GRCm39) |
N318Y |
probably null |
Het |
| Hsd3b6 |
A |
G |
3: 98,718,262 (GRCm39) |
V34A |
probably benign |
Het |
| Krt9 |
A |
G |
11: 100,082,346 (GRCm39) |
I193T |
probably damaging |
Het |
| Lama4 |
A |
T |
10: 38,902,565 (GRCm39) |
I180F |
possibly damaging |
Het |
| Lamc1 |
T |
C |
1: 153,126,407 (GRCm39) |
T458A |
probably damaging |
Het |
| Lin28b |
A |
T |
10: 45,346,155 (GRCm39) |
M1K |
probably null |
Het |
| Myo16 |
T |
C |
8: 10,372,600 (GRCm39) |
C100R |
probably damaging |
Het |
| Nt5c3 |
A |
T |
6: 56,860,718 (GRCm39) |
M279K |
probably damaging |
Het |
| Ppfia2 |
A |
G |
10: 106,742,255 (GRCm39) |
Y1016C |
probably damaging |
Het |
| Rpl6 |
A |
G |
5: 121,345,264 (GRCm39) |
|
probably benign |
Het |
| Rpn2 |
G |
T |
2: 157,158,130 (GRCm39) |
|
probably null |
Het |
| Rspry1 |
T |
C |
8: 95,380,884 (GRCm39) |
V396A |
probably benign |
Het |
| Serpina3i |
C |
T |
12: 104,234,761 (GRCm39) |
T364I |
probably damaging |
Het |
| Shprh |
A |
G |
10: 11,030,509 (GRCm39) |
K242R |
possibly damaging |
Het |
| Slit3 |
A |
G |
11: 35,062,417 (GRCm39) |
N72S |
possibly damaging |
Het |
| Tatdn3 |
C |
A |
1: 190,787,541 (GRCm39) |
A114S |
probably benign |
Het |
| Tjp2 |
A |
G |
19: 24,091,469 (GRCm39) |
V564A |
probably damaging |
Het |
| Tmem117 |
T |
C |
15: 94,777,253 (GRCm39) |
|
probably benign |
Het |
| Tnfrsf8 |
T |
C |
4: 144,995,703 (GRCm39) |
E452G |
probably damaging |
Het |
| Tns1 |
T |
C |
1: 73,976,407 (GRCm39) |
D1147G |
probably damaging |
Het |
| Traf6 |
T |
C |
2: 101,515,134 (GRCm39) |
S97P |
probably damaging |
Het |
| Ttc28 |
A |
T |
5: 111,414,449 (GRCm39) |
E1321D |
probably benign |
Het |
|
| Other mutations in Syt17 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00486:Syt17
|
APN |
7 |
118,033,513 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL01135:Syt17
|
APN |
7 |
117,981,270 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
IGL01331:Syt17
|
APN |
7 |
118,007,389 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01610:Syt17
|
APN |
7 |
118,033,216 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
IGL01776:Syt17
|
APN |
7 |
118,009,176 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02125:Syt17
|
APN |
7 |
118,009,197 (GRCm39) |
missense |
probably benign |
0.01 |
|
H8562:Syt17
|
UTSW |
7 |
118,007,292 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0127:Syt17
|
UTSW |
7 |
118,009,164 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0328:Syt17
|
UTSW |
7 |
117,981,216 (GRCm39) |
missense |
probably benign |
0.28 |
|
R1789:Syt17
|
UTSW |
7 |
118,036,061 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1872:Syt17
|
UTSW |
7 |
118,007,341 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1878:Syt17
|
UTSW |
7 |
118,033,468 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1918:Syt17
|
UTSW |
7 |
118,033,208 (GRCm39) |
missense |
possibly damaging |
0.54 |
|
R2133:Syt17
|
UTSW |
7 |
117,981,270 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R3777:Syt17
|
UTSW |
7 |
118,033,180 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4471:Syt17
|
UTSW |
7 |
118,036,040 (GRCm39) |
splice site |
probably null |
|
|
R4472:Syt17
|
UTSW |
7 |
118,036,040 (GRCm39) |
splice site |
probably null |
|
|
R4567:Syt17
|
UTSW |
7 |
118,033,495 (GRCm39) |
missense |
probably benign |
0.06 |
|
R5211:Syt17
|
UTSW |
7 |
118,041,626 (GRCm39) |
missense |
probably benign |
0.19 |
|
R5905:Syt17
|
UTSW |
7 |
118,036,141 (GRCm39) |
missense |
probably benign |
0.10 |
|
R6054:Syt17
|
UTSW |
7 |
118,007,356 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R6276:Syt17
|
UTSW |
7 |
118,033,513 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6332:Syt17
|
UTSW |
7 |
118,033,466 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7022:Syt17
|
UTSW |
7 |
118,007,242 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7440:Syt17
|
UTSW |
7 |
117,981,107 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7610:Syt17
|
UTSW |
7 |
118,033,682 (GRCm39) |
splice site |
probably null |
|
|
R7845:Syt17
|
UTSW |
7 |
118,009,194 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R8294:Syt17
|
UTSW |
7 |
118,009,228 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8296:Syt17
|
UTSW |
7 |
118,036,069 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R8429:Syt17
|
UTSW |
7 |
118,033,564 (GRCm39) |
missense |
probably benign |
|
|
R8949:Syt17
|
UTSW |
7 |
118,033,054 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9278:Syt17
|
UTSW |
7 |
118,033,480 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9622:Syt17
|
UTSW |
7 |
118,036,191 (GRCm39) |
missense |
probably benign |
|
|
R9629:Syt17
|
UTSW |
7 |
118,007,379 (GRCm39) |
missense |
probably damaging |
0.96 |
|
Z1177:Syt17
|
UTSW |
7 |
118,033,446 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
| Posted On |
2015-12-18 |
Incidental Mutation